Age relationship between insulin-dependent diabetes and rare alleles of properdin factor B.
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Adolescent↗
Biomedical subjects
R L Kirk
Publications and source records attributed to R L Kirk.
Hereditary angioedema: lack of close linkage with markers on chromosome 6, with data on other markers.
Members of two Australian families with type A Hereditary Angioedema (HAE), having affected individuals in three generations, were typed for a large number of genetic marker systems in a search for close linkage with the locus controlling C1 inhibitor (C1 inh). The evidence from both families indicated lack of close linkage with HLA or with the loci for Bf and GLO on chromosome 6. Very close linkage was also excluded between the locus for C1 inh and the loci for 6PGD, PGM1 and MNSs. The other markers were not informative, but data on all systems showing variation are reported. The publication of similar data for other kindreds will help to determine lod scores for the probability of linkage between the C1 inh locus and loci controlling common protein polymorphisms. Linkage studies of this kind could establish whether the loci controlling type A and B HAE are identical or separate.
Adult↗
A true hermaphrodite dispermic chimera with 46,XX and 46,XY karyotypes.
A 16-year-old male with hypospadias and gynaecomastia had a rudimentary uterus with a right Fallopian tube and ovary; the left gonad was a functioning testis. Cytogenetic studies showed cells with 46,XX and 46,XY sex chromosomes in cultured blood, skin and gonadal tissues. Cells with the 46,XX constitution predominated in all tissues. Extensive investigations failed to demonstrate blood cell and serum chimerism, but there was little genetic variation of these characters between family members. Cytogenetic studies demonstrated that the father had contributed different marker chromosomes to the 46,XY and 46,XX cell lines of the propositus, whereas the mother had contributed the same two informative markers to both cell lines. The patient was a chimera with two diploid cell lines of different sex that had developed from the products of two separate acts of syngamy. Dispermy was demonstrated, and, whereas there was no evidence of different maternal contributions to the chimeric cell lines, uncertainty remains that these were identical.
Adolescent↗
Strong linkage disequilibrium between HLA-Dw2 and and BfS in multiple sclerosis and in the normal population.
An increased frequency of the S allele of Properdin factor B (BfS) was found amongst 162 patients with multiple sclerosis (MS) compared with 470 normal controls. This increase was shown to be due to a strong linkage disequilibrium (LD) between BfS and HLA-Dw2 in 77 patients typed for both systems (delta = 3.84%, P = .0002). The same LD was demonstrated amongst 100 normal controls (delta = 2.24%, P = .0049) and 31 patients with idiopathic demyelination of the peripheral nervous system (IDPN). A total of 70 haplotypes with HLA-Dw2 were encountered (40 MS, seven IDPN and 23 normal controls) and all contained BfS. In the MS patient group, a much weaker association was noted between BfS and HLA-B7 suggesting either that the Bf locus is musch closer to the HLA-D than the HLA-B locus or (and) that HLA-D and Bf products selectively interact (perhaps on the surface of B lymphocytes) with evolutionary advantage or disadvantage resulting from certain allelic combinations. Strong associations between BfS1 and HLA-Bw21 (P = .0000) and BfF1 and HLA-B18 (P = .0001), both previously reported, were confirmed in the current study. No increase in the frequency of a glyoxalase (GLO) allele was found amongst the MS patients and no LD was encountered between HLA-Dw2 and a GLO allele. The possibility that the HLA-Dw2, BfS disequilibrium has resulted from a selective advantage conferred on the general community but at the expense of increasing susceptibility to MS should be considered.
Chromosome Mapping↗
Genetic susceptibility to diabetes mellitus: the distribution of properdin factor B (Bf) and glyoxalase (GLO) phenotypes.
The distribution of phenotypes controlled by two loci on chromosome 6 has been studied in a series of 239 patients with type 1 (insulin-dependent) and 297 patients with type 2 (non-insulin-dependent) diabetes mellitus. At the properdin factor B (Bf) locus there is a significant increase in the frequency of the BfSu and BfF1 alleles for type 1 patients, and the combined inc;rease in frequency of BfS1 and BfF1 in those patients is highly significant. The relative risk for F1 is 6.2 and for F1 and S1 combined is 5.3. These results confirm the association with F1 reported recently by Raum and co-workers in Boston. The two rare alleles BfS1 and BfF1 are in significant negative disequilibrium with HLA B8. For the glyoxalase (GLO) locus there is a slight but nonsignificant increase in the frequency of the GLO2 allele, but a significant disturbance in the distribution of the GLO phenotypes for type 2 patients. These results for the GLO alleles may be due to stratification in our series of type 2 patients. Further studies are in progress to test this hypothesis.
Alleles↗
The frequency of private electrophoretic variants in Australian aborigines and indirect estimates of mutation rate.
The number of "private" electrophoretic variants of enzymes controlled by 25 loci has been used to obtain estimates of mutation rate in Australian Aborigines. Three different methods yield values of 6.11 X 10(-6), 2.78 X 10(-6), and 12.86 X 10(-6)/locus per generation for the total sample of Aborigines. One tribal population of Waljbiri in central Australia gives values of 2.99 X 10(-6) and 2.04 X 10(-6) for two of the methods, the third being unapplicable. The mean mutation rate for the total Aboriginal sample of 7.25 X 10(-6) is very similar to the value obtained by Neel and his colleagues for Amerindians in South America.
Australia↗
Widespread distribution of variant forms of carbonic anhydrase in Australian aboriginals.
Three distinctive genes which control variants of carbonic anhydrase (CA) have been detected in tests on nearly 3000 Aboriginals from various parts of Australia. Two of these genes affect the products of the CA1 locus, the other affects the products of the CA2 locus. In some populations of Aboriginals, more than 10% of persons have a variant carbonic anhydrase. It is suggested that such an unusual frequency of CA variants may be an evolutionary response to metabolic stress connected either with low zinc concentrations in the diet or with the altered needs of ion regulation in an arid environment.
Alleles↗
Genetic differentiation among populations in western New Guinea.
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Blood Proteins↗
Transferrin variants in Korea and Japan.
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Blood Protein Electrophoresis↗
Thirteen cases of leukemia in a family.
Thirteen cases of leukemia, 12 of them acute, occurred in 3 generations of a family comprising 293 members. Individual cases could not be linked to the possession of any of a range of genetic markers. Cytogenetic studies showed no constitutional chromosome abnormalities. Preliminary results of virologic studies suggested the presence of oncornaviruses in at least 1 leukemic individual in this family. This aggregation of leukemia cases likely resulted from a genetic, probably polygenic, predisposition, in association with the activity of leukemogenic factors whose nature remains to be clearly defined.
Adolescent↗
A population genetic study of the Vania Soni in Western India.
A total of 267 blood samples from persons belonging to the Shrimali Vania Soni caste group in Gujarat State, Western India have been analyzed for 6 blood group, 4 serum protein and 19 red cell enzyme systems, for haemoglobin and beta-thalassaemia and for red-green colour blindness. A number of rare genetic variants were detected, including a unique electrophoretically fast variant of superoxide dismutase. Genetic distance comparisons with other caste groups in Gujarat State show that Vania Soni from Surat are a distinctive group clustering with another subdivision of the Vania. The remaining Vania Soni cluster together and are distinct from the other caste groups examined in Gujarat. However, on the basis of individual genetic markers the Vania Soni appear not to be genetically differentiated in any remarkable way from other Hindu populations in western and northern India.
Blood Group Antigens↗
Genetic components in susceptibility to nasopharyngeal carcinoma.
A series of blood samples from more than 200 histologically confirmed Chinese patients with NPC in Singapore were typed for 25 genetically controlled red-cell enzyme and five serum protein systems. A comparable number of patients suspected of having NPC but histologically negative and a series of healthy unrelated Chinese were typed for the same systems. The gene frequencies of NPC patients and controls differed by 4% or more in four of the 11 systems that showed variation; a further system, G6PD deficiency, also showed a significant difference between the two series but was excluded because of possible unreliability of the results from patients. Smaller differences existed in several other systems, including chromosome 6 markers closely linked to HLA. An analysis of differences within dialect groups showed a consistent effect for PGD, but for red-cell acid phosphatase there was a reversal of the difference between patients and controls among the Cantonese. These results need a larger series to confirm their validity. A breakdown of patients into those 30 years of age or older and those under 30 slightly enhanced the differences in gene frequencies. A multivariate analysis, using genetic distance statistics, showed a significant difference between NPC patients and controls, which is evident also when they are compared in the separate dialect groups. The histologically negative patients occupied an intermediate position. The study indicates that etiological factors resulting in clinically and histologically confirmed NPC operate on a genetically distinct subpopulation of Chinese in Singapore.
Acid Phosphatase↗
Genes and people in the Caspian Littoral: a population genetic study in Northern Iran.
Data for the distribution of alleles controlling two blood group systems and secretor status, for hemoglobin types, five serum protein groups and 15 red cell enzyme systems has been obtained. Eleven of the systems showed polymorphic variation and these systems have been used to calculate genetic distances using Morton's Kinship measure. No systematic relationship between genetic distance and geographic location of linguistic affiliation is apparent. There is, however, an apparent cline of decreasing frequency of PGDc from east to west and also significant differences in the frequency of G6PD deficiency corresponding to variation in the ecology of the region. Genetic distance comparisons with other selected populations reveal that the Turkic and Turkoman speaking peoples in the Caspian area cluster with the Kurds, Greeks and Iranis. The Persian speakers are genetically remote from these populations; they are, however, close to the Parsis who migrated from Iran to India at the end of the Seventh Century A.D. Several unusual genetic variants were detected, including a novel MDH phenotype, a superoxide dismutase phenotype identical with the Scandinavian type, and rare forms of LDH, PGM locus 2, ceruloplasmin, diaphorase, peptidases and PHI.
Acid Phosphatase↗
The linkage relationships of the haemoglobin beta, delta and alpha loci with 34 genetic marker systems.
An analysis of the linkage relationships of the Hbalpha and Hbbeta loci with 34 genetic marker systems is presented. No evidence of linkage of either haemoglobin locus with any of the marker loci was found. The Hbalpha locus may be excluded from approximately 7% and the Hbbeta locus from approximately one-third of the autosomal genome.
Chromosome Mapping↗
A population genetic study of the Kota in the Nilgiri Hills, South India.
A population genetic study among the Kota of the Nilgiri Hills, South India, involved tests for abnormal haemoglobins, 5 red cell antigen systems, 4 serum protein and 13 red cell enzymes systems. Twelve systems are invariant in the Kota. The most distinctive characteristics are extremely low frequency of the A1 gene and complete absence of A2 in the ABO system, r(cde) in the Rh system, LDH cal-1 among the enzyme systems as well as absence of abnormal haemoglobins. A comparison of gene frequencies in those systems, which show variation, suggests that the Kota are more similar to the Toda than to any other tribal or caste population of the area. Genetic distance as well principal component analysis also reveals that the Toda and Kota are close to each other, in agreement with tradition.
Blood Group Antigens↗
HLA types, blood groups, serum protein and red cell enzyme types among Samoans in New Zealand.
101 Samoans living in New Zealand, of whom 77 had no known non-Samoan ancestry, have been typed for nine blood group systems, four serum protein and 23 red cell enzyme systems, for haemoglobin variants and antigens at the HLA A nad B loci. The frequencies of genes in these various systems suggest that Samoans fall partly into an island Melanesian-Micronesian pattern, and partly are unique. Their uniqueness is most distinctive for the HLA system.
Acid Phosphatase↗
Population genetic studies in kerala and the nilgiris (South West India).
A total of nearly 1,000 persons belonging to a number of caste, religious and tribal groupings in Kerala and the Nilgiri Hills of South India have been tested for genetic variation in 4 blood group, 5 serum protein and 17 enzyme systems as well as haemoglobin. The distribution of blood groups, serum protein and enzyme groups is similar to that reported for other South Indian populations. Abnormal haemoglobins were detected in several populations. Abnormal haemoglobins were detected in several populations, HbS being present in more than 20% of the Irula and Kurumba in the Nilgiri Hills. In the Kerala populations there were 4 examples of Hb AD and 1 of Hb AE. Genetic distance estimates using the gene frequency data indicate that the closest groups are the Nayar and Izhava and the Brahmin and Nayar. The tribal populations are approximately twice as far from the Nayar as they are from the Izhava. The Todas of the Nilgiri Hills are somewhat closer to the Brahmin of Kerala than they are to the other tribal populations.
ABO Blood-Group System↗